genetic risk factorshttps://www.autismspeaks.org/taxonomy/term/29206/0
enYour Dollars@Work: Discovering Early Autism Risk Factorshttps://www.autismspeaks.org/blog/2014/03/06/your-dollarswork-discovering-early-autism-risk-factors
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<p>Thanks to your help, researchers and families are uncovering what increases or decreases the risk that a child will develop autism</p>
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<p><img alt="" class="caption" src="http://www.autismspeaks.org/sites/default/files/docs/earli_family__hero.jpg" style="margin-right: auto; margin-left: auto; max-width: 100%; display: block; border-width: 0px; border-style: solid;" title="The Waldmans lead their team at a Washington, DC, Walk for Autism Speaks. Holly wearing a pink wig and holding Gavin; Rob kneeling with sons John and Caleb." /></p>
<p align="center">&nbsp;</p>
<p><em><img align="left" alt="" border="0" src="http://www.autismspeaks.org/sites/default/files/docs/michelle_landrum_blog_photo.jpg" style="padding:5px;margin-right: 5px; border: 0px;" />By Michelle Landrum, research and outreach coordinator for the Early Autism Risk Longitudinal Investigation (EARLI), at the Johns Hopkins Bloomberg School of Public Health. Thanks to the passion and generosity of its donors and volunteers, Autism Speaks helps support the EARLI study and its collaborations with related research projects through several </em><a href="http://www.autismspeaks.org/about-us/grant-search?terms=EARLI"><em>research grants</em></a><em>.</em></p>
<p>When Rob and Holly Waldman&rsquo;s son John was diagnosed with autism in 2009, they felt uncertain of the path ahead. But they were determined to do their best for both John and the baby Holly was carrying. This Maryland couple volunteered for the <a href="http://www.earlistudy.org/" target="_blank">Early Autism Risk Longitudinal Investigation (EARLI Study)</a> the same day they learned of John&rsquo;s diagnosis.</p>
<p>EARLI is examining environmental and genetic risk factors for autism &ndash; and their interplay &ndash; starting during pregnancy. It&rsquo;s funded through a major grant from the National Institutes for Health, with <a href="http://www.autismspeaks.org/about-us/grant-search?terms=EARLI">additional funding from Autism Speaks</a>.</p>
<p>&ldquo;It made a lot of sense,&rdquo; Rob recalls. He and Holly wanted to help advance understanding of autism&rsquo;s causes and, at the same time, have researchers closely monitor the development of their next child. &ldquo;I felt better that we were doing everything we could,&rdquo; Rob says.</p>
<p>Today, the Waldmans are among 233 families taking part in EARLI through one of four locations:</p>
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Drexel University and the Children&rsquo;s Hospital of Philadelphia*</li>
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Johns Hopkins University and Kennedy Krieger Institute* in Maryland</li>
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Kaiser Permanente&rsquo;s Division of Research in Northern California</li>
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University of California, Davis and its associated MIND Institute.</li>
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<em>* a member of the </em><a href="http://www.autismspeaks.org/science/resources-programs/autism-treatment-network/what-atn"><em>Autism Speaks Autism Treatment Network</em></a></p>
<p><strong>Our participants</strong></p>
<p>EARLI has a very specific study population: All enrolling families have a child on the autism spectrum with another on the way. Our researchers will continue to follow the enrolled families through early 2016. (Enrollment is currently closed.)</p>
<p>&ldquo;The EARLI Study allows us to collect rich array of data on wide range of possible autism risk factors during the time we think these risk factors are operating &ndash; the prenatal time period,&rdquo; says principal investigator Craig Newschaffer, of the AJ Drexel Autism Institute. &ldquo;We suspect that there are a number of as-yet-unknown factors that work along with genetic susceptibility to cause autism,&rdquo; Dr. Newschaffer says. &ldquo;EARLI&rsquo;s data collection approach will give us a chance to develop strong leads about these.&rdquo;</p>
<p>After enrolling, Holly provided researchers with highly detailed information about the progress of her pregnancy. She answered questions about her health, habits, diet and stress, as well as the personal-care, household and work products she uses.</p>
<p>Like all EARLI families, the Waldmans also provided home dust samples for chemical analysis. They provided blood samples. And when Gavin was born, the EARLI researchers received his placenta.</p>
<p><img alt="" class="caption" src="http://www.autismspeaks.org/sites/default/files/docs/earli_lab_worker_300w.jpg" style="padding: 5px; margin-left: 5px; border: 0px; float: right;" title="Tamara Rosen, the EARLI project coordinator at Drexel University, processes a sample from a participant." />The family continued to answer detailed questions about Gavin&rsquo;s health, diet and development. Importantly, they also brought Gavin in for regular developmental monitoring by the EARLI team. This continued until Gavin was 3 years old.</p>
<p>&ldquo;We felt we were getting something in return,&rdquo; Rob says of the expert developmental assessments Gavin received.</p>
<p>The Waldmans were among the first families to graduate from EARLI. Today, Gavin is almost 4, with no signs of autism, Rob says. However, the EARLI clinicians noticed early that Gavin was slightly delayed in communication, Rob recalls. Holly and Rob raised the issue with Gavin&rsquo;s preschool teacher.</p>
<p>Older brother John, now 6, is making progress with behavioral therapy but remains nonverbal.</p>
<p><strong>Delivering results</strong></p>
<p>Although the Waldmans&rsquo; role with EARLI is done, our study has much more work ahead. Our researchers continue to collect and analyze information.</p>
<p>The Waldmans say they&rsquo;re eager to see the results. &ldquo;When we were doing this, we felt we were helping, whether for others or for our sons,&rdquo; Rob says.</p>
<p>Although it&rsquo;s been more than sixty years since scientists first identified and described autism, its causes largely remain a mystery.&nbsp;Through our EARLI study, we hope to change that.</p>
<p>On behalf of the entire EARLI team, I&rsquo;d like to thank Autism Speaks and its community of families, donors and volunteers for their support.&nbsp;</p>
<p><em><img align="left" alt="" border="0" src="http://www.autismspeaks.org/sites/default/files/docs/bsrc_logo_200_4.jpg" style="padding:5px;margin-right: 5px; border: 0px;" />Editor&rsquo;s note: The EARLI study and its researchers are part of <a href="http://www.autismspeaks.org/science/research-initiatives/high-risk-baby-sibs">Autism Speaks Baby Siblings Research Consortium</a>. The consortium brings together research groups from around the world with the mission of discovering the earliest predictors of autism. This work both advances understanding of how autism develops and promises to open the door to earlier diagnosis and treatment. Read more about this important research and its findings <a href="http://www.autismspeaks.org/science/research-initiatives/high-risk-baby-sibs">here</a>.</em><br />
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https://www.autismspeaks.org/blog/2014/03/06/your-dollarswork-discovering-early-autism-risk-factors#commentsAspergerAsperger'sautismautism researchAutism Speaksautism spectrumEARLIenvironmental risk factorsgenetic risk factorsPDD-NOSScienceYour Dollars @ WorkYour Dollars@WorkThu, 06 Mar 2014 14:23:57 +0000257076 at https://www.autismspeaks.orgFinding Information on Autism-Related Genes https://www.autismspeaks.org/blog/2013/02/08/finding-information-autism-related-genes
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<p>A parent wants more information on her daughter's autism-related gene mutation. What resources are available? </p>
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<p><strong>My 2.5-year-old daughter has a deletion on the short arm of her X-chromosome (Xp22.31). What do researchers know about the relationship between autism and genetic changes? How can I find &nbsp;researchers who are studying this particular deletion?&nbsp;</strong></p>
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<p><em>This week&#39;s &quot;Got Questions?&quot; answer comes from </em><em>Alycia Halladay, PhD, Autism Speaks senior director for environmental and clinical sciences. </em></p>
<p>With new technologies and the identification of new autism-associated gene changes, genetic counselors are better equipped than ever to provide guidance to questions such as yours. Genetic screening allows researchers to probe more deeply into how mutations, deletions and duplications affect an individual&rsquo;s risk of developing autism spectrum disorder (ASD).&nbsp;</p>
<p>However, there&rsquo;s still much we don&rsquo;t know. While we understand the role of some genes, scientists also agree that in many cases, dozens &ndash; if not hundreds &ndash; of genes contribute to the risk of ASD.</p>
<p>We do know that there are a few single-gene disorders associated with a high risk of autism. These include fragile X syndrome, tuberous sclerosis complex, chromosome 15q duplication syndrome, copy number variation <a href="http://blog.autismspeaks.org/tag/geraldine-bliss/">Pheland-McDermid syndrome</a> and <a href="http://www.autismspeaks.org/blog/2012/11/02/digeorge-syndrome">DiGeorge syndrome</a>.</p>
<p>A number of advocacy groups and organizations provide information, parent and child support, research funds and services for those affected by these specific genetic disorders. (See list below.)</p>
<p>Unfortunately, I&rsquo;m not aware of an organization that specifically addresses Xp22.31 deletions. There are, however, a few parent support groups on <a href="http://health.dir.groups.yahoo.com/group/Xp2231Duplication/?tab=s">Yahoo</a> and <a href="http://www.facebook.com/pages/XP-Chromosome-Duplication-2231/121296864618114">Facebook</a>. The <a href="http://www.nsgc.org/">National Society for Genetic Counselors</a> provides a platform for finding genetic counselors who may be able to help you further. The society&rsquo;s website also has a helpful discussion forum.</p>
<p>To find research teams looking at a particular autism-related mutation, it can help to perform a PubMed or &ldquo;Google Scholar&rdquo; search. Here are my <a href="http://scholar.google.com/scholar?hl=en&amp;q=%E2%80%9Cxp22.31+deletion%E2%80%9D+autism+&amp;btnG=&amp;as_sdt=1%2C33&amp;as_sdtp=">search results</a> for &ldquo;Xp22.31&rdquo; and &ldquo;autism.&rdquo; Among the authors of these studies, you may be able to identify a research group at a university or medical center in your region.</p>
<p>If you are interested in enrolling your child in a clinical trial, we hope you will first read Autism Speaks <em><a href="http://www.autismspeaks.org/science/participate-research/participants-guide-drug-research">Participants Guide to Autism Drug Research</a> </em>(available for free download)<em>.</em></p>
<p>We also recommend several organizations that provide information and resources on more-common genetic disorders strongly associated with autism.</p>
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<a href="http://www.fraxa.org/">FRAXA Research Foundation</a> for fragile X syndrome. Families affected by fragile X founded this grassroots nonprofit in 1994. FRAXA raises awareness about fragile X. It also provides support to families and individuals affected by the condition.</li>
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<a href="http://tsalliance.org/index.aspx">Tuberous Sclerosis Alliance</a> for the tuberous sclerosis complex (TSC) gene on chromosome 9 or 11. This organization, founded in 1974 by four mothers of children with TSC, dedicates itself to finding a cure for the disorder. The organization&rsquo;s website offers information for individuals and families, healthcare professionals and scientists. It also provides support for the newly diagnosed and for school-related issues.&nbsp;</li>
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<a href="http://www.idic15.org/" target="_blank">Dup15q Alliance</a> for chromosome 15q duplication syndrome. This organization keeps an international registry of those affected by Dup15q syndrome. It provides a network for parent mentoring and support and holds an annual conference where parents and professionals can meet. The alliance also advocates for research.</li>
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<a href="http://simonsvipconnect.org/">Simons VIP Connect</a>, for copy number variation (CNV) deletions or duplications, including 16p11.2 and 1q21.1 deletion or mutation. This foundation provides information about CNVs, including webinars and meetings. It also puts families in touch with experts to answer questions and offers information about participating in research.</li>
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<a href="http://22q13.org/j15/index.php?option=com_content&amp;view=article&amp;id=53&amp;Itemid=28">Phelan-McDermid Syndrome Foundation</a> (formerly known as 22q13 deletion syndrome). This foundation works to improve the quality of life for people affected by PMS worldwide. It sponsors conferences and supports research through grants and fellowships. Free membership provides families with a quarterly newsletter and access to regional representatives who help with networking and support. You can learn more about the Phelan-McDermid Syndrome Foundation in <a href="http://blog.autismspeaks.org/2011/01/11/the-phelan-mcdermid-syndrome-foundation/" target="_blank"> this blog</a> by Geraldine Bliss, chair of the organization&#39;s research support committee.&nbsp;</li>
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<p><em>For more information on autism and genetics, see our news story on <a href="http://www.autismspeaks.org/science/science-news/researchers-identify-24-more-%E2%80%9Chigh-impact%E2%80%9D-autism-gene-changes">&ldquo;high impact&rdquo; autism gene changes</a>, <a href="http://www.autismspeaks.org/science/science-news/father%E2%80%99s-age-linked-increased-genetic-mutations-children">father&rsquo;s age and autism risk</a> and <a href="http://www.autismspeaks.org/blog/2013/01/15/communicating-autism-risk">autism risk factors</a>. Autism Speaks <a href="http://www.autismspeaks.org/science/science-news/autism-speaks-awards-48-million-new-research-grants">provides support for research</a> investigating the links between autism and genetics, including <a href="http://www.autismspeaks.org/about-us/grant-search%20fragile%20x">fragile X syndrome</a><a href="http://www.autismspeaks.org/about-us/grant-search%20fragile%20x%20tuberous%20sclerosis">, tuberous sclerosis</a> and <a href="http://www.autismspeaks.org/science/grants/genomic-imbalances-autism?destination=about-us%2Fgrant-search%2Fresults%2Ftaxonomy%3A9771+16p11.2">16p11.2</a>.&nbsp;</em></p>
15q duplication syndrome16p11.21q21.1Alycia HalladayASDautismautism genesautism geneticsAutism Speaksautism spectrum disordercauseCNVcopy number variationDup15qfragile x syndromegenetic risk factorsGot Questions?Phelan-McDermid SyndromePMSrisksSciencescience blogtuberous sclerosisxp22.31Fri, 08 Feb 2013 12:02:09 +0000216621 at https://www.autismspeaks.orgAutism Genomicshttps://www.autismspeaks.org/blog/2012/10/16/autism-genomics
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<p>Is there such a thing as an autism genome? </p>
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<p><strong>Is there such a thing as an autism genome?</strong></p>
<p><em><img alt="" src="http://www.autismspeaks.org/sites/default/files/images/science/science_news/brett-abrahams.jpg" style="width: 150px; height: 173px; margin-right: 5px; margin-left: 5px; float: left;" />This week&rsquo;s &ldquo;Got Question&rdquo; answer comes from Brett Abrahams, PhD, assistant professor of genetics and neuroscience at the Albert Einstein College of Medicine, in New York City.</em></p>
<p><strong><em>No, there is no autism genome. </em></strong>By definition, a genome is the entirety of an individual&rsquo;s hereditary material. Our genomes are made up of billions of repeating DNA base pairs. The DNA is a code or instruction manual that governs the ways cells grow, divide and interact in response to signals from the environment and other cells. Each of us has a genome that&rsquo;s different from all others in many ways. Thousands of these differences help shape who we are, and some influence the risk of developing a genetic disorder.</p>
<p><strong><em>Researchers have identified a large and growing number of genetic variants that influence autism risk. </em></strong>These rare genetic variants, occurring in specific regions of the genome, can affect the ways cells function in profound ways. Research has identified a number of these variants as greatly increasing the risk of autism. Although each is very rare, 10 to 20 percent of individuals with autism appear to have at least one. People who carry these variants don&#39;t always develop autism. However, they&rsquo;re at substantially increased risk.</p>
<p>We also have evidence of more common genetic variants that increase autism risk by affecting cellular function in subtle ways. In the general population, most people carry one or two of these variants. But one or two does not appear to be sufficient to cause autism by themselves. [Editor&#39;s note: Also see our related news story, &quot;<strong><a href="http://www.autismspeaks.org/science/science-news/common-gene-variations-add-increase-autism-risk">Common Gene Variations Add Up to Increase Autism Risk</a></strong>.&quot;]</p>
<p>To better understand this distinction, take the analogy of driving a car. Driving in a blizzard dramatically increases the risk of a bad outcome. Similarly, having a high-risk genetic variant can profoundly influence the chances that a child will develop autism. Using the driving analogy, more subtle issues can also produce problems. Take, for example, a tired driver, bald tires or wet roads. In isolation, any one is rarely a concern. Likewise, having subtle genetic variants doesn&rsquo;t necessarily lead to autism. But it increases risk.</p>
<p><strong><em>Very few genetic variants act in the same way in all individuals. </em></strong>Clearly, there is no one form of autism. These differences reflect differences in genetics and environment. Current thinking suggests that it&#39;s the way in which rare and common variants come together with environmental factors that shapes each person&rsquo;s outcome.</p>
<p><em>Autism Speaks is funding a number of</em>&nbsp;<a href="http://www.autismspeaks.org/about-us/grant-search?terms=asperger"><em>studies</em></a>&nbsp;<em>aimed at helping better understand the </em><a href="http://www.autismspeaks.org/about-us/grant-search?terms=genome"><em>genetics of autism</em></a><em>. You can explore</em>&nbsp;<a href="http://www.autismspeaks.org/about-us/grant-search?terms=asperger"><em>these</em></a>&nbsp;<em>and other funded research projects using this website&rsquo;s </em><a href="http://www.autismspeaks.org/about-us/grant-search"><em>Grant Search</em></a><em>. </em><strong><em>Got more questions? Please send them to</em></strong>&nbsp;<a href="mailto:GotQuestions@autismspeaks.org"><strong><em>GotQuestions@autismspeaks.org</em></strong></a><em>.</em></p>
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autismAutism Speaksautism spectrum disorderBrett Abrahamsgenetic risk factorsgeneticsgenomeGot questionsGot Questions?Sciencescience blogTue, 16 Oct 2012 10:00:01 +0000209096 at https://www.autismspeaks.org